Results 141 to 150 of about 30,318 (229)

Patient journey with Charcot-Marie-Tooth Disease - A German patient survey study. [PDF]

Orphanet J Rare Dis
Pernice HF, May S, Mühlensiepen F, Spethmann S, Kneitz R, Mossakowski A, Hahn K.   +6 more
europepmc   +1 more source

Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease [PDF]

, 2016
Avneesh Chhabra, John A. Carrino, Sahar J. Farahani, Gaurav K. Thawait, Charlotte J. Sumner, Vibhor Wadhwa, Vinay Chaudhary, Thomas E. Lloyd   +7 more
openalex   +1 more source

A 16-year-old patient with Charcot Marie Tooth disease in variant c.217G>C of the INF2 gene and focal glomerulosclerosis – a case report

, 2021
Maria Przygoda, Dawid Matias, Maciej Jurczak, Aldona Sokołowska, Karolina Raba, Juliusz Wołkanowski, Małgorzata Rydzanicz, Joanna Kosińska, Rafał Płoski, David Aebisher, Antoni Pyrkosz   +10 more
openalex   +1 more source

Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variants. [PDF]

J Neurol Neurosurg Psychiatry
Record CJ, Grider T, Rebelo AP, Laurini C, Skorupinska M, Danzi MC, Poh R, Tomaselli PJ, Frezatti RS, Dominik N, Grosz B, Ellis M, Kumar KR, Harms MB, Weihl CC, Marques Júnior W, Claeys KG, Blake JC, Holt JK, Weber A, Jacobson R, Dineen RT, Falzone YM, Previtali SC, Menezes MP, Vucic S, Laura M, Kennerson ML, Shy ME, Zuchner S, Reilly MM.   +30 more
europepmc   +1 more source

Pediatric Cohort of Charcot-Marie-Tooth Disease: Clinical Features and Genetic Distribution. [PDF]

Neurol Genet
Alawneh I, Alemán A, Nigro E, Bouchard M, Gonorazky HD.   +4 more
europepmc   +1 more source

Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F. [PDF]

Neurogenetics
Küpper H, Stühn LG, Grundmann-Hauser K, Grimm AM, Blankenburg M, Haack TB, Rosewich H.   +6 more
europepmc   +1 more source

Image 1_Metabolomics insights into Charcot–Marie–Tooth disease: toward biomarker discovery.pdf

Signe Setlere (21383015), Theresa Schiemer (17757667), Annija Vaska (17757670), Linda Gailite (8539332), Dmitrijs Rots (8539338), Viktorija Kenina (14638904), Kristaps Klavins (1812859)   +6 more
openalex   +1 more source

Homozygous Expression of a Dominant Gene Causing Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease) [PDF]

, 1974
H. Warner Kloepfer, James M. Killian
openalex   +1 more source

White Matter Microstructural Correlates of Auditory Brainstem Responses in Patients With Charcot-Marie-Tooth Disease. [PDF]

Brain Behav
Wang P, An Z, Huang Y, Qi W, Han X, Xia Y, Chen Z, Yang Z, Zhao P, Liu Y.   +9 more
europepmc   +1 more source

Review for "Synergistic PXT3003 therapy uncouples neuromuscular function from dysmyelination in male Charcot-Marie-Tooth disease type 1A (CMT1A) rats"

, 2020
Katherine Halievski
openalex   +1 more source